John Libbey Eurotext



Molecular genetics of inherited factor VII deficiencies Volume 5, issue 3, Mai - Juin 1999


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Hereditary factor VII deficiency is a rare, autosomal recessive bleeding disorder. The clinical features in affected patients are quite variable, and oftentimes correlate poorly with plasma factor VII coagulant activity levels. The mechanisms responsible for factor VII deficiency are due either to decreased biosynthesis or to dysfunctional factor VII. The mechanism underlying factor VII deficiency associated to spontaneous gene mutation unveiled structure-fonction relationship and improved our knowledge of blood coagulation.